310
Views
4
CrossRef citations to date
0
Altmetric
Research Article

Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia

, , , , , , , & show all
Pages 29-33 | Received 29 Jan 2011, Accepted 22 Aug 2011, Published online: 21 Oct 2011

References

  • Honeyman MM, Green A, Holton JB, Leonard JV. Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988–90. Arch Dis Child 1993;69:339–41.
  • Loeber JG. Neonatal screening in Europe; the situation in 2004. Inherit Metab Dis 2007;30:430–8.
  • Schwarz V. The value of galactose phosphate determinations in the treatment of galactosaemia. Arch Dis Child 1960;35: 428–32.
  • Gitzelmann R. Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia. Pediatr Res 1969;3:279–86.
  • Gitzelmann R, Hansen RG. Galactose metabolism, hereditary defects and their clinical significance. In: Burman D, Holton JB, Pennock CA, editors. Inherited disorders of carbohydrate metabolism. Lancaster: MTP Press Ltd; 1980. pp. 61–101.
  • Hansen RG, Gitzelmann R. The metabolism of lactose and galactose. In: Jeanes A, Hodge J, editors. Physiological effects of food carbohydrates. Washington, DC: American Chemistry Society, ACS Symposium Series, vol. 15; 1975. pp. 100–22.
  • Beutler E, Baluda MC. A simple spot screening test for galactosemia. J Lab Clin Med 1966;68:137–41.
  • Dahlqvist A. A fluorometric method for the assay of galactose-1-phosphate in red blood cells. J Lab Clin Med 1971; 78:931–8.
  • Gitzelmann R. Estimation of galactose-1-phosphate in erythrocytes: a rapid and simple enzymatic method. Clin Chim Acta 1969;26:313–6.
  • Donnell GN, Bergren WR, Perez G, Koch R. Galactose-1-phosphate in galactosemia. Pediatrics 1963;31:802–10.
  • Chen J, Yager C, Reynolds R, Palmieri M, Segal S. Erythrocyte galactose 1-phosphate quantified by isotope-dilution gas chromatography-mass spectrometry. Clin Chem 2002; 48:604–12.
  • Taverniers I, De Loose M, Van Bockstaele E. Trends in quality in the analytical laboratory. II. Analytical method validation and quality assurance. Trends Analyt Chem 2004;23: 535–552.
  • Shinka T, Inoue Y, Peng H, Zhen-Wei X, Ose M, Kuhara T. Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria. J Chromatogr B Biomed Sci Appl 1999;24;732:469–77.
  • Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors; Childs B, Kinzler KW, Volgelstein B, Assoc. editors. The metabolic and molecular basis of inherited disease, 8th edn. New York: McGraw-Hill; 2001. pp. 1553–83.
  • Harvey DJ, Horning MG. Characterization of the trimethylsilyl derivatives of sugar phosphates and related compounds by gas chromatography and gas chromatography-mass spectrometry. J Chromatogr 1973;76:51–62.
  • Perez M, Bodourian SH, Nicholson JF. A new microfluorometric method for the measurement of galactose-1-phosphate in erythrocytes. Clin Chim Acta 1982;118:177–89.
  • Gitzelmann R. Galactose-1-phosphate in the pathophysiology of galactosemia. Eur J Pediatr 1995;154:S45–9.
  • Gitzelmann R, Hansen RG. Galactose biogenesis and disposal in galactosemics. Biochim Biophys Acta 1974;372:374–8.
  • Gitzelmann R, Hansen RG, Steinmann B. Biogenesis of galactose, a possible mechanism of self-intoxication in galactosemia. In: Hommes FA, Van den Berg CJ, editors. Normal and pathological development of energy metabolism. London: Academic Press; 1975. pp. 25–38.
  • Hutchesson AC, Murdoch-Davis C, Green A, Preece MA, Allen J, Holton JB, Rylance G. Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations J Inherit Metab Dis 1999;22:139–48.
  • Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res 2010;67:286–92.
  • Widger J, O'Toole J, Geoghegan O, O'Keefe M, Manning R. Diet and visually significant cataracts in galactosaemia: is regular follow up necessary? J Inherit Metab Dis 2010; 33:129–32.
  • Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis 2011;34:357–66.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.